Chromosomal Rearrangements in Primates

Comparative molecular cytogenetics techniques allow us to trace the chromosome rearrangements which have occurred during primate and human evolution. Technique such as fluorescence in situ hybridization (FISH) of whole chromosome paints (WCP) allows us to track interchromosomal rearrangements (translocations). FISH with smaller probes such as bacterial artificial chromosomes (BAC) allows us to study intrachromosomal rearrangements such as inversions. These data show that human chromosomes are amazingly similar to those of great apes and most Old World monkeys. Human chromosomes can be derived from the ancestral primate karyotype by a limited number of rearrangements.

Keywords: FISH; BAC; synteny; translocation; marker order

Figure 1. An example of hybridizing a pool of human chromosome-specific probes (paints) to a metaphase of the black-handed spider monkey (Ateles geoffroyi). Red signals are from human chromosome 1 labelled with tamra, green signals are from human chromosome 16 labelled with fluorescent green and yellow signals are from human chromosome 2 labelled with CY5.5.
Figure 2. The translocation events that marked the origin of the major divisions in the evolution of the primates. The double-headed arrows indicate that numerous additional translocations have occurred in some phylogenetic lines that led to living species of primates. Other lines are more conservative and have experienced a more limited number of translocations.
Figure 3. An example of multicolour FISH of human BACs to chromosomes of the rhesus macaque (Macaca mulatta).
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 Further Reading
    Dumas F, Stanyon R, Sineo L et al. (2007) Phylogenomics of species from four genera of New World monkeys by flow sorting and reciprocal chromosome painting. BMC Evolutionary Biology 7(suppl. 2): S11.
    Ferguson-Smith MA, Yang F, Rens W et al. (2005) The impact of chromosome sorting and painting on the comparative analysis of primate genomes. Cytogenetic and Genome Research 108(1–3): 112–121.
    Roberto R, Capozzi O, Wilson RK et al. (2007) Molecular refinement of gibbon genome rearrangements. Genome Research 17(2): 249–257.
    Stanyon R, Bruening R, Stone G et al. (2005) Reciprocal painting between humans, De Brazza's and patas monkeys reveals a major bifurcation in the Cercopithecini phylogenetic tree. Cytogenetic and Genome Research 108(1–3): 175–182.
    Stanyon R, Dumas F, Stone G et al. (2006) Multidirectional chromosome painting reveals a remarkable syntenic homology between the greater galagoes and the slow loris. American Journal of Primatology 68: 349–359.
    Ventura M, Antonacci F, Cardone MF et al. (2007) Evolutionary formation of new centromeres in macaque. Science 316(5822): 243–246.
    Wienberg J and Stanyon R (1998) Comparative chromosome painting of primate genomes. ILAR Journal 39(2–3): 77–91.
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Stanyon, Roscoe, and Bigoni, Francesca(Jul 2008) Chromosomal Rearrangements in Primates. In: eLS. John Wiley & Sons Ltd, Chichester. http://www.els.net [doi: 10.1002/9780470015902.a0005805.pub2]